Single channel properties of heterotetrameric mutant RyR1 ion channels linked to core myopathies.
about
Two-pore channels form homo- and heterodimersA structural model of the pore-forming region of the skeletal muscle ryanodine receptor (RyR1)Pore dynamics and conductance of RyR1 transmembrane domain.The I4895T mutation in the type 1 ryanodine receptor induces fiber-type specific alterations in skeletal muscle that mimic premature aging.Muscle weakness in Ryr1I4895T/WT knock-in mice as a result of reduced ryanodine receptor Ca2+ ion permeation and release from the sarcoplasmic reticulum.Unexpected dependence of RyR1 splice variant expression in human lower limb muscles on fiber-type composition.Ca2+ release in muscle fibers expressing R4892W and G4896V type 1 ryanodine receptor disease mutantsChannel Gating Dependence on Pore Lining Helix Glycine Residues in Skeletal Muscle Ryanodine ReceptorA recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity.Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rodsGenotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel.Calcitonin gene-related peptide restores disrupted excitation-contraction coupling in myotubes expressing central core disease mutations in RyR1.Interaction of ions with the luminal sides of wild-type and mutated skeletal muscle ryanodine receptors.An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities.The structural basis of ryanodine receptor ion channel function.G4941K substitution in the pore-lining S6 helix of the skeletal muscle ryanodine receptor increases RyR1 sensitivity to cytosolic and luminal Ca2.Clinical features and ryanodine receptor type 1 gene mutation analysis in a Chinese family with central core disease.Genetic ablation of ryanodine receptor 2 phosphorylation at Ser-2808 aggravates Ca(2+)-dependent cardiomyopathy by exacerbating diastolic Ca2+ release.
P2860
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P2860
Single channel properties of heterotetrameric mutant RyR1 ion channels linked to core myopathies.
description
2008 nî lūn-bûn
@nan
2008 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Single channel properties of h ...... els linked to core myopathies.
@ast
Single channel properties of h ...... els linked to core myopathies.
@en
Single channel properties of h ...... els linked to core myopathies.
@nl
type
label
Single channel properties of h ...... els linked to core myopathies.
@ast
Single channel properties of h ...... els linked to core myopathies.
@en
Single channel properties of h ...... els linked to core myopathies.
@nl
prefLabel
Single channel properties of h ...... els linked to core myopathies.
@ast
Single channel properties of h ...... els linked to core myopathies.
@en
Single channel properties of h ...... els linked to core myopathies.
@nl
P2093
P2860
P356
P1476
Single channel properties of h ...... els linked to core myopathies.
@en
P2093
Daniel A Pasek
Gerhard Meissner
Naohiro Yamaguchi
P2860
P304
P356
10.1074/JBC.M707353200
P407
P577
2008-01-01T00:00:00Z